Reviewer 1's Review
“The authors present conclusive evidence that they have identified the molecular basis of the rare eye disease, Schnyder corneal dystrophy, by identifying 5 different rare missense mutations in a gene identified by the positional candidate approach in a chromosomal region which has been previously implicated to harbor the disease gene, in 5 different affected families. They show co-segregation of the mutation with the disease in 2 families where several affected persons are available, and absence of the mutation in a panel of 144 control persons with unknown clinical status from Nova Scotia. Their conclusions are based on their data. The gene product is thought to encode a potential prenyltransferase and to interact with apolipoprotein E. The authors do not contribute further data to reveal the gene function.”
N.B. These are the general comments made by the reviewer when reviewing this paper in light of which the manuscript was revised. Specific points addressed during revision of the paper are not shown.
